intron (regarding the numbering of intronic nucleotides, see
Description of intronic variants)
5' part intron - T to G substitution of the second nt in the intron (88+2) positioned between cDNA nts 88 and 89 (intron 2)

genomic Reference Sequence

cDNA Reference Sequence

g.490T>G

c.88+2T>G

3' part intron - G to T substitution of the last nt of the intron
(89-1) positioned between cDNA nts 88 and 89 (intron 2)

genomic Reference Sequence

cDNA Reference Sequence

g.688G>T

c.89-1G>T

alternatively spliced exon (coding DNA reference sequence used should represent the major and largest transcript of the gene) - G to C substitution of intronic nt 812 (cDNA 123+89)